ClinVar Miner

List of variants in gene combination CFTR, LOC113664106 reported by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.4(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.4(CFTR):c.175dup (p.Arg59fs) rs397508294
NM_000492.4(CFTR):c.179_180del (p.Glu60fs) rs1584776308

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